Abstract
Background Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by a germline mutation in the STK11 gene. It is characterized by mucocutaneous pigmentation, gastrointestinal hamartomatous polyps, and cancer predisposition. Aims We aimed to summarize the main clinical and genetic features of Chinese PJS patients and assessed the genotype-phenotype correlations. Methods Thirty-eight patients clinically diagnosed with Peutz-Jeghers syndrome were included in this study from 2016 to 2019. Combined direct sequencing and multiplex ligation-dependent probe amplification tests were used to detect germline heterogeneous STK11 mutations. RNA sequencing was performed in polyps of PJS patients and control groups to evaluate the difference in expression of STK11. The genotype-phenotype correlations were calculated by Kaplan-Meier analyses. Results All 26 probands and 12 affected relatives had germline heterogeneous STK11 mutations among which 8 variants were novel. Individuals with missense mutations had their first surgery and other symptoms significantly later than individuals with null mutations. Conclusion This study expanded the spectrum of STK11 gene mutations and further elucidated individuals with null mutations of STK11 typically had an earlier onset of PJS symptoms and needed earlier management.
Highlights
Peutz-Jeghers syndrome (PJS, OMIM 175200) is a rare inherited autosomal dominant disease, with a triad of mucocutaneous pigmentation (MP), gastrointestinal hamartomatous polyps, and an increasing risk of a wide variety of malignancies [1,2,3]
Thirty-eight PJS patients from 26 unrelated families were included in the study, consisting of 15 familial and 11 sporadic PJS cases (Supplementary Figure 1)
3 patients (8%) were considered with PJS because of mucocutaneous pigmentations, and the rest were diagnosed with PJS for gastrointestinal symptoms (66%) or PJS family history (26%) (Table 1)
Summary
Peutz-Jeghers syndrome (PJS, OMIM 175200) is a rare inherited autosomal dominant disease, with a triad of mucocutaneous pigmentation (MP), gastrointestinal hamartomatous polyps, and an increasing risk of a wide variety of malignancies [1,2,3]. 80%-94% of PJS patients have germline STK11 mutations detected by direct sequencing and multiplex ligationdependent probe amplification (MLPA) [11, 12]. Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by a germline mutation in the STK11 gene. It is characterized by mucocutaneous pigmentation, gastrointestinal hamartomatous polyps, and cancer predisposition. We aimed to summarize the main clinical and genetic features of Chinese PJS patients and assessed the genotype-phenotype correlations. This study expanded the spectrum of STK11 gene mutations and further elucidated individuals with null mutations of STK11 typically had an earlier onset of PJS symptoms and needed earlier management
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